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Editor-in-Chief Melissa Norton, MD
Medical Editor Jigisha Patel, MRCP PhD
In-house Editor Scott Edmunds
Welcome to BMC Medical Genetics published by BioMed Central
BMC Medical Genetics is an open access journal publishing original peer-reviewed research articles in the effects of genetic variation in individuals, families and among populations in relation to human health and disease.
BMC Medical Genetics (ISSN 1471-2350) is indexed/tracked/covered by PubMed, MEDLINE, BIOSIS, CAS, Scopus, EMBASE, Current Contents, Thomson Reuters (ISI) and Google Scholar.
BMC Medical Genetics 2008, 9 :93
Intergenic epistasis between polymorphisms of the alpha2C-adrenergic receptors ADRA2C and ADRB1, both involved in the sympathetic activation of the heart, increase the risk of death or cardiac transplant in heart failure patients.
BMC Medical Genetics 2008, 9 :92
The identification of a hypomorphic mutation of Ellis-van Creveld syndrome, an autosomal recessive disease with a distinctive phenotype, identifies the need to genotype those with cardiac and limb abnormalities but not other more typical features
BMC Medical Genetics 2008, 9 :85
A single nucleotide polymorphism (SNP) in the FTO gene, previously linked to increased risk of obesity, is not associated with weight loss during a lifestyle intervention program or with fasting blood glucose, triglycerides or cholesterol.
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Research article
SLC6A3 and body mass index in the prostate, lung, colorectal and ovarian cancer screening trial Elizabeth M Azzato, Lindsay M Morton, Andrew W Bergen, Sophia S Wang, Nilanjan Chatterjee, Paul Kvale, Meredith Yeager, Richard B Hayes, Stephen J Chanock, Neil E Caporaso BMC Medical Genetics 2009, 10 :9 (30 [Abstract ] [Provisional PDF ]
Research article
IL23R in the Swedish, Finnish, Hungarian and Italian populations: association with IBD and psoriasis, and linkage to celiac disease Elisabet Einarsdottir, Lotta LE Koskinen, Emma Dukes, Kati Kainu, Sari Suomela, Maarit Lappalainen, Fabiana Ziberna, Ilma R Korponay-Szabo, Kalle Kurppa, Katri Kaukinen, Roza Adany, Zsuzsa Pocsai, Gyorgy Szeles, Martti Farkkila, Ulla Turunen, Leena Halme, Paulina Paavola-Sakki, Tarcisio Not, Serena Vatta, Alessandro Ventura, Robert Lofberg, Leif Torkvist, Francesca Bresso, Jonas Halfvarson, Markku Maki, Kimmo Kontula, Ulpu Saarialho-Kere, Juha Kere, Mauro D'Amato, Paivi Saavalainen BMC Medical Genetics 2009, 10 :8 (28 [Abstract ] [Provisional PDF ]
Research article
An investigation of ribosomal protein L10 gene in autism spectrum disorders Xiaohong Gong, Richard Delorme, Fabien Fauchereau, Christelle M Durand, Pauline Chaste, Catalina Betancur, Hany Goubran-Botros, Gudrun Nygren, Henrik Anckarsater, Maria Rastam, I. Carina Gillberg, Svenny Kopp, Marie-Christine Mouren-Simeoni, Christopher Gillberg, Marion Leboyer, Thomas Bourgeron BMC Medical Genetics 2009, 10 :7 (23 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Research article
An Open Access Database of Genome-wide Association Results Andrew D Johnson, Christopher J O'Donnell BMC Medical Genetics 2009, 10 :6 (22 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Research article
Genetic and Other Factors Determining Mannose-binding Lectin Levels in American Indians: The Strong Heart Study Lyle G. Best, Robert E. Ferrell, Susan DeCroo, Kari E. North, Jean W. MacCluer, Ying Zhang, Elisa T. Lee, Barbara V. Howard, Jason Umans, Vittorio Palmieri, Peter Garred BMC Medical Genetics 2009, 10 :5 (22 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Research article
Common genetic variants of the ion channel transient receptor potential membrane melastatin 6 and 7 (TRPM6 and TRPM7), magnesium intake, and risk of type 2 diabetes in women Yiqing Song, Yi-Hsiang Hsu, Tianhua Niu, JoAnn E. Manson, Julie E. Buring, Simin Liu BMC Medical Genetics 2009, 10 :4 (17 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Research article
Genome Screen in Familial Intracranial Aneurysm Tatiana Foroud, Laura Sauerbeck, Robert Brown, Craig Anderson, Daniel Woo, Dawn Kleindorfer, Matthew L. Flaherty, Ranjan Deka, Richard Hornung, Irene Meissner, Joan E. Bailey-Wilson, Carl Langefeld, Guy Rouleau, E. SANDER Connolly, Dongbing Lai, Daniel L. Koller, John Huston III, Joseph P. Broderick, FIA Study Investigators [Familial Intracranial Aneurysm Study Investigators] BMC Medical Genetics 2009, 10 :3 (13 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Technical advance
A rapid method for detection of five known mutations associated with aminoglycoside-induced deafness Soraya Bardien, Hannique Human, Tashneem Harris, Gwynneth Hefke, Rene Veikondis, H Simon Schaaf, Lize van der Merwe, John H Greinwald, Johan Fagan, Greetje de Jong BMC Medical Genetics 2009, 10 :2 (13 [Abstract ] [Full text ] [PDF ] [PubMed ] [Related articles ]
Research article
Multiple splice defects in ABCA1 cause low HDL-C in a family with Hypoalphalipoproteinemia and premature coronary disease Jeffrey Rhyne, Myrna M Mantaring, David F Gardner, Michael Miller BMC Medical Genetics 2009, 10 :1 (8 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Research article
Folliculin mutations are not associated with severe COPD Michael H Cho, Barbara J Klanderman, Augusto A Litonjua, David Sparrow, Edwin K Silverman, Benjamin A Raby BMC Medical Genetics 2008, 9 :120 (30 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Research article
Screening and association testing of common coding variation in steroid hormone receptor co-activator and co-repressor genes in relation to breast cancer risk: the Multiethnic Cohort Christopher A Haiman, Rachel R Garcia, Chris Hsu, Lucy Xia, Helen Ha, Xin Sheng, Loic Le Marchand, Laurence N Kolonel, Brian E Henderson, Michael R Stallcup, Geoffrey L Greene, Michael F Press BMC Cancer 2009, 9 :43 (30 [Abstract ] [Provisional PDF ]
Research article
The 9p21 susceptibility locus for coronary artery disease and the severity of coronary atherosclerosis Suet Nee Chen, Christie M Ballantyne, Antonio M Gotto Jr, Ali J Marian BMC Cardiovascular Disorders 2009, 9 :3 (27 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Research article
Clinical Significance of Altered nm23-H1, EGFR, RB and p53 Expression in Bilharzial Bladder Cancer Hussein M Khaled, Abeer A Bahnassy, Amira A Raafat, Abdel-Rahman N Zekri, Maha S Madbouly, Nadia M Mokhtar BMC Cancer 2009, 9 :32 (26 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Research
The hierarchically organized splitting of chromosomal bands for all human chromosomes Nadezda Kosyakova, Anja Weise, Kristin Mrasek, Uwe Claussen, Thomas Liehr, Heike Nelle Molecular Cytogenetics 2009, 2 :4 (26 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Research
Genetic variants in MUTYH are not associated with endometrial cancer risk
Katie A Ashton, Anthony Proietto, Geoffrey Otton, Ian Symonds, Rodney J Scott Hereditary Cancer in Clinical Practice 2009, 7 :3 (26 [Abstract ] [Provisional PDF ]
Case report
Large family with both parents affected by distinct BRCA1 mutations: implications for genetic testing Anna P Sokolenko, Dmitry A Voskresenskiy, Aglaya G Iyevleva, Elena M Bit-Sava, Nadezhda I Gutkina, Maxim S Anisimenko, Nathalia Yu Sherina, Nathalia V Mitiushkina, Yulia M Ulibina, Olga S Yatsuk, Olga A Zaitseva, Evgeny N Suspitsin, Alexandr V Togo, Valery A Pospelov, Sergey P Kovalenko, Vladimir F Semiglazov, Evgeny N Imyanitov Hereditary Cancer in Clinical Practice 2009, 7 :2 (26 [Abstract ] [Provisional PDF ]
Research
Circadian polymorphisms associated with affective disorders Daniel F Kripke, Caroline M Nievergelt, E J Joo, Tatyana Shekhtman, John R Kelsoe Journal of Circadian Rhythms 2009, 7 :2 (23 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Short report
SET-NUP214 fusion in Acute Myeloid Leukemia- and T-cell Acute Lymphoblastic Leukemia- derived cell lines Hilmar Quentmeier, Bjorn Schneider, Sonja Rohrs, Julia Romani, Margarete Zaborski, Roderick AF MacLeod, Hans G Drexler Journal of Hematology & Oncology 2009, 2 :3 (23 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Research article
Four novel mutations in the lactase gene (LCT) underlying congenital lactase deficiency (CLD) Suvi Torniainen, Roberta Freddara, Taina Routi, Carolien Gijsbers, Carlo Catassi, Pia Hoglund, Erkki Savilahti, Irma Jarvela BMC Gastroenterology 2009, 9 :8 (22 [Abstract ] [Provisional PDF ] [PubMed ] [Related articles ]
Correspondence
The Human Gene Mutation Database: 2008 update Peter D Stenson, Matthew Mort, Edward V Ball, Katy Howells, Andrew D Phillips, Nick ST Thomas, David N Cooper Genome Med 2009, 1 :13 (21 [Abstract ] [Full text ] [PDF ]
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